Revel Score:
ENST00000271588 (MANE Select)
0.761
ENST00000367492
0.761
ENST00000414277
0.761
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186174532A>C , CM000663.2:g.186174532A>C | GRCh38 |
| NC_000001.10:g.186143664A>C , CM000663.1:g.186143664A>C | GRCh37 |
| NC_000001.9:g.184410287A>C | NCBI36 |
| NG_011841.1:g.444982A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15833A>C MANE Select | ENSP00000271588.4:p.Asp5278Ala | |
| ENST00000271588.8:c.15833A>C | ENSP00000271588.4:p.Asp5278Ala | |
| ENST00000414277.1:c.209A>C | ENSP00000406205.1:p.Asp70Ala | |
| NM_031935.2:c.15833A>C | NP_114141.2:p.Asp5278Ala | |
| XM_011510037.1:c.15548A>C | XP_011508339.1:p.Asp5183Ala | |
| XM_011510038.1:c.15833A>C | XP_011508340.1:p.Asp5278Ala | |
| XM_011510038.3:c.15833A>C | XP_011508340.1:p.Asp5278Ala | |
| XM_017002437.1:c.13856A>C | XP_016857926.1:p.Asp4619Ala | |
| NM_031935.3:c.15833A>C MANE Select | NP_114141.2:p.Asp5278Ala |